NM_005891.3:c.784G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005891.3(ACAT2):c.784G>A(p.Val262Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000101 in 1,613,586 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005891.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000136 AC: 34AN: 250672Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135458
GnomAD4 exome AF: 0.000104 AC: 152AN: 1461392Hom.: 0 Cov.: 31 AF XY: 0.000110 AC XY: 80AN XY: 726994
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152194Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.784G>A (p.V262I) alteration is located in exon 7 (coding exon 7) of the ACAT2 gene. This alteration results from a G to A substitution at nucleotide position 784, causing the valine (V) at amino acid position 262 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at